Bilateral leptomeningeal angioma and calcifications were associated with a more severe clinical phenotype in Sturge-Weber syndrome, characterized by earlier seizure onset, higher rates of drug resistance, and cognitive impairment, while infratentorial involvement was associated with increased intellectual disability.
Epilepsy was highly prevalent in this Sturge-Weber syndrome cohort, with a very early mean age of onset.
Bilateral leptomeningeal angioma was associated with a substantially higher rate of drug-resistant epilepsy and earlier seizure onset compared to the overall cohort.
Stroke-like episodes and migraine-like headache were common neurological manifestations in this cohort.
The majority of patients had unilateral leptomeningeal angioma on MRI, with a minority showing bilateral or infratentorial extension.
Bilateral leptomeningeal angioma and calcifications on MRI were associated with a more severe clinical phenotype including cognitive impairment.
Infratentorial extension of leptomeningeal angioma was associated with increased prevalence of intellectual disability.
This research examined 22 children (ages 3–16) diagnosed with Sturge-Weber syndrome, a rare condition involving abnormal blood vessel growth on the brain's surface, between 2009 and 2024. The study looked at how brain MRI findings related to the severity of neurological symptoms, including seizures, stroke-like episodes, headaches, and learning difficulties. The researchers found that seizures were extremely common (91% of patients) and tended to start very early in life, at an average age of about 6.6 months. Nearly two-thirds of patients also experienced status epilepticus (prolonged or repeated seizures) and 64% had stroke-like episodes. The study found that specific MRI findings were linked to worse outcomes. Children who had abnormal blood vessel growth on both sides of the brain (bilateral angioma, seen in 13% of patients) had a much higher rate of seizures that could not be controlled with medications (67% drug-resistant, compared to 27% overall), and their seizures started even earlier, at a median age of 2 months. The presence of calcium deposits (calcifications) in the brain and extension of the abnormal blood vessels into the lower part of the brain (infratentorial region, seen in 23%) were also linked to greater learning difficulties and intellectual disability. This research suggests that brain MRI findings — particularly whether the angioma affects both sides of the brain, whether calcifications are present, and whether the lower brain is involved — can help predict how severe a child's neurological symptoms are likely to be in Sturge-Weber syndrome. These findings support the importance of detailed MRI evaluation at diagnosis, as certain imaging patterns may signal a need for closer monitoring and more aggressive management of seizures and cognitive development.
Ramos M, Buompadre M. (2026). [Sturge-Weber syndrome: comparative analysis between clinical manifestations and neuro-radiological findings].. Medicina. https://pubmed.ncbi.nlm.nih.gov/42659558/